X-linked intellectual disability, Snyder type

Orpha code: 3063OMIM code: 309583

Definition

X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

Disease data
Classification

Disease

Synonyms
Snyder-Robinson syndrome
Zespół Snydera i Robinsona
ORPHA code
3063
OMIM code
309583
ICD10 code
Q87.8
ICD11 code
LD90

No additional description.

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